Genomics Precision Diagnostic > Endocrinology

Endocrinology

Monogenic and syndromic obesity gene panel

Overview
Indications
Genes & Associated Diseases

Coming Soon

For More Information Call our Geneticist: 800 50342

Hyperlipidemia gene panel

Overview
Indications
Genes & Associated Diseases

Hyperlipidemia is a set of metabolic disorders that are characterized by too many lipids in the blood. Lipids or fats include cholesterol and triglycerides. An excess of lipids causes increased fatty acid deposits which leads to blockages in the arteries. Genetic hyperlipidemia is mostly inherited in an autosomal dominant manner but can also be inherited in an autosomal recessive way. Hyperlipidemia is a general term used to identify a disease associated with too many lipids and/or fats in the body, Hypercholesterolemia is one of the most common forms of hyperlipidemia.

Specialties involved – Cardiology, endocrinology

High cholesterol
High blood pressure

Coronary artery disease
Cardiovascular disease
Hypercholesterolemia

For More Information Call our Geneticist: 800 50342

Maturity-onset diabetes of the young (MODY) & neonatal diabetes gene panel

Overview
Indications
Genes & Associated Diseases

Maturity-onset diabetes of the young (MODY) is a set of inherited disorders that present in adolescence or young adulthood and affect an individual’s blood sugar level. Individuals diagnosed with this condition have very high blood sugar levels due to reduced production of insulin. MODY is inherited in an autosomal dominant manner and cases can arise de-novo (for the first time) in the affected individual

Specialties involved: endocrinology

Diabetes under the age of 35
Family history
Biochemical testing

MODY

For More Information Call our Geneticist: 800 50342

Disorders of Sex Development (Abnormal Genitalia) Panel

Overview
Indications
Genes & Associated Diseases

Disorders of Sex Development (DSD) occur when there is a discrepancy between the appearance of the genetalia and the genetic makeup of an individual. These disorders can present from birth to adolescence. DSD can be mild or significant depending on the appearance of the Gentelia and associated symptoms. DSD can be caused by changes at the chromosomal level and the gene level thus the inheritance pattern of DSDs can be dominant, recessive or sex-linked. Additionally, DSDs can occur due to de novo changes in the DNA (for the first time in the affected individual)

Specialties involved: Endocrinology, urology, gynecology, neonatology

Ambiguous Gentelia

Coming Soon

For More Information Call our Geneticist: 800 50342

Hereditary pancreatitis gene panel

Overview
Indications
Genes & Associated Diseases

pancreatitis is a condition that occurs when the pancreas becomes inflamed and so leads to adverse symptoms. Hereditary pancreatitisis caused by repeated episodes of pancreas inflammation, symptoms usually begin within the first two decades but can start at any time. Most cases are inherited in an autosomal dominant manner or due to a de novo gene changeSpecialties involved: Endocrinology

Stomach pain
Nausea and vomiting
Weight loss
Diarrhea

Hereditary pancreatitis

For More Information Call our Geneticist: 800 50342

Congenital adrenal hyperplasia gene panel

Overview
Indications
Genes & Associated Diseases

Congenital Adrenal Hyperplasia (CAH) is a group of diseases that are associated with variants or mutations in the genes that are involved in some hormone production. Specifically, CAH occurs when there is an excess of hormones in the adrenal gland. This condition is associated with recessive inheritance and is usually diagnosed at birth. An imbalance of body hormones could have sever effects throughout and individual’s lifetime including problems with fertility, obesity and hypertension. The nature of the genetic variants and genes associated with CAH means that testing for the condition is not straight forward. CAH can be tested for in three ways – CYP21A2 gene sequencing, CYP21A2 del/dup by MLPA and a gene panel associated with CAH not including the CYP21A2 gene.

Specialties involved – endocrinology, neonatology, fertility specialists

Talk to Igenomix’s genetic counsellors or geneticist for more information if you are concerned about CAH.

Excessive hormone development
Ambiguous genitalia
Cortisol deficiency
Infertility
Obesity
Hypertension

Congenital adrenal hyperplasia
Adrenogenital syndrome

For More Information Call our Geneticist: 800 50342

Sample Requirements

For genetic testing through next generation sequencing, the following sample types are accepted. A thorough labelling of the tube with unique identifying information is suggested, incorrect labelling can lead to rejection of the sample. The minimum required information to identify and accept a sample is – Patient’s full name, Date of birth, Gender and Medical Record Number.

Maternal blood sample must be sent with all products of conception, CVS and Amnio samples.
Precedence will be given to all prenatal samples.

The ‘informed consent’ form and the ‘test requisition from’ (included within the provided kit) must be properly filled-in and signed by the patient and sent with the samples inside the shipping box or by e-mail to the laboratory. Igenomix will send you all the documents needed for the pick-up and transportation of the appropriate kit to our laboratory

Methodology

Limitations

The probes used for this test are designed to detect known genes in the curated panel. Therefore, this test is unable to detect genes not defined by the NCBI reference genome GRCh37 or non-human genome sequences including viral sequences or non-nuclear DNA that are designated in the specific panel.

In addition, due to the limitations of NGS technologies, the following variants cannot be readily detected: large deletions/duplications greater than 40 base pairs, copy number variations, homopolymer stretches, variants in pseudogene regions, gene fusions, balanced translocations, inversions, ploidy changes, uniparental disomy, and repeat expansion regions.

Furthermore, variants present outside the exons (non-coding region) could be missed; these variants can affect gene activity and protein production which may lead to genetic disorders. This technique does not cover the entire exome, (the % of bases with coverage above 20x is approximately 97%). It may not be possible to resolve certain details about variants such as mosaicism, phasing, or mapping ambiguity.

Analytical limitations may also occur due to the provided clinician information. Accurate and thorough clinical information of the patient(s) and family members is required as incomplete information may lead to false positive or negative results

This list of indications and symptoms is not necessarily a comprehensive list and only covers common symptoms associated with disease, signs and symptoms should be discussed with your physician. If you feel like you are affected by one or more of these syndromes visit a doctor immediately. The information presented in this site is not meant to diagnose any medical or genetic condition rather give an overview of the panels presented and offer guidance as to which panel is most appropriate. The associated diseases listed are not necessarily a comprehensive list – more diseases may be added to this list as new information about the disease and the genes associated with these diseases and panels arises